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Article

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

1
Medical Genetics, University of Siena, 53100 Siena, Italy
2
Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy
3
Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy
*
Author to whom correspondence should be addressed.
Co-first authors.
Academic Editor: Ivan Y. Iourov
Int. J. Mol. Sci. 2021, 22(24), 13439; https://doi.org/10.3390/ijms222413439
Received: 29 November 2021 / Revised: 7 December 2021 / Accepted: 10 December 2021 / Published: 14 December 2021
(This article belongs to the Special Issue Molecular Genetics of Autism and Intellectual Disability)
Intellectual disability (ID) is characterized by impairments in the cognitive processes and in the tasks of daily life. It encompasses a clinically and genetically heterogeneous group of neurodevelopmental disorders often associated with autism spectrum disorder (ASD). Social and communication abilities are strongly compromised in ASD. The prevalence of ID/ASD is 1–3%, and approximately 30% of the patients remain without a molecular diagnosis. Considering the extreme genetic locus heterogeneity, next-generation sequencing approaches have provided powerful tools for candidate gene identification. Molecular diagnosis is crucial to improve outcome, prevent complications, and hopefully start a therapeutic approach. Here, we performed parent–offspring trio whole-exome sequencing (WES) in a cohort of 60 mostly syndromic ID/ASD patients and we detected 8 pathogenic variants in genes already known to be associated with ID/ASD (SYNGAP1, SMAD6, PACS1, SHANK3, KMT2A, KCNQ2, ACTB, and POGZ). We found four de novo disruptive variants of four novel candidate ASD/ID genes: MBP, PCDHA1, PCDH15, PDPR. We additionally selected via bioinformatic tools many variants in unknown genes that alone or in combination can contribute to the phenotype. In conclusion, our data confirm the efficacy of WES in detecting pathogenic variants of known and novel ID/ASD genes. View Full-Text
Keywords: autism; intellectual disability; whole-exome sequencing autism; intellectual disability; whole-exome sequencing
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MDPI and ACS Style

Bruno, L.P.; Doddato, G.; Valentino, F.; Baldassarri, M.; Tita, R.; Fallerini, C.; Bruttini, M.; Lo Rizzo, C.; Mencarelli, M.A.; Mari, F.; Pinto, A.M.; Fava, F.; Fabbiani, A.; Lamacchia, V.; Carrer, A.; Caputo, V.; Granata, S.; Benetti, E.; Zguro, K.; Furini, S.; Renieri, A.; Ariani, F. New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing. Int. J. Mol. Sci. 2021, 22, 13439. https://doi.org/10.3390/ijms222413439

AMA Style

Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, Furini S, Renieri A, Ariani F. New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing. International Journal of Molecular Sciences. 2021; 22(24):13439. https://doi.org/10.3390/ijms222413439

Chicago/Turabian Style

Bruno, Lucia P., Gabriella Doddato, Floriana Valentino, Margherita Baldassarri, Rossella Tita, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria A. Mencarelli, Francesca Mari, Anna M. Pinto, Francesca Fava, Alessandra Fabbiani, Vittoria Lamacchia, Anna Carrer, Valentina Caputo, Stefania Granata, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, and Francesca Ariani. 2021. "New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing" International Journal of Molecular Sciences 22, no. 24: 13439. https://doi.org/10.3390/ijms222413439

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